Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02338:Tbx15'

288931

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbx15

Ensembl Gene

ENSMUSG00000027868

Gene Name

T-box 15

Synonyms

de, Tbx14, Tbx8

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

IGL02338

Quality Score

Status

Chromosome

Chromosomal Location

99240381-99354259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99352484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 557 (Y557C)

Ref Sequence

ENSEMBL: ENSMUSP00000029462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029462]

AlphaFold

O70306

Predicted Effect

probably damaging
Transcript: ENSMUST00000029462
AA Change: Y557C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: Y557C

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
TBOX	112	309	8.05e-131	SMART
Blast:TBOX	310	482	8e-83	BLAST
low complexity region	486	492	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutants have low set ears that project laterally, skeletal abnormalities and distinctive dorsoventral coat color patterning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	G	A	4: 133,062,549	C367Y	possibly damaging	Het
AI182371	T	A	2: 35,085,716	I279L	probably benign	Het
Ambp	A	T	4: 63,143,697	C332S	probably damaging	Het
App	T	C	16: 85,173,519	T14A	probably benign	Het
Asap1	A	T	15: 64,123,670		probably null	Het
Aurka	T	C	2: 172,359,858	R242G	probably benign	Het
BC034090	G	A	1: 155,217,471	P747L	probably damaging	Het
Bcl6b	T	C	11: 70,229,092	D23G	probably damaging	Het
Cabp2	A	C	19: 4,084,154	E42A	possibly damaging	Het
Ccdc14	G	A	16: 34,721,803	S557N	probably benign	Het
Ccdc146	G	T	5: 21,319,606		probably benign	Het
Cenpf	T	A	1: 189,680,418	Q216L	probably damaging	Het
Ces1b	G	A	8: 93,057,047	P515L	possibly damaging	Het
Col6a5	A	T	9: 105,878,630	N2198K	probably damaging	Het
Csmd2	A	G	4: 128,395,066	S1133G	possibly damaging	Het
Cspg5	G	A	9: 110,256,267	R502H	probably benign	Het
Cyp2g1	A	G	7: 26,814,804		probably benign	Het
Dnajc27	A	G	12: 4,096,229	Y86C	probably damaging	Het
Dnm1	T	C	2: 32,312,771	D715G	probably damaging	Het
Dock1	G	T	7: 135,133,075	L1317F	possibly damaging	Het
Fanci	T	A	7: 79,433,531	Y727*	probably null	Het
Fbxw20	T	A	9: 109,225,978	T168S	probably benign	Het
Folh1	A	T	7: 86,736,515		probably benign	Het
Gas7	A	T	11: 67,682,731	S379C	probably damaging	Het
Gbp2b	A	G	3: 142,604,226	E259G	probably benign	Het
Gm8325	T	C	3: 60,877,384		noncoding transcript	Het
Gm9268	T	C	7: 43,047,736	I739T	probably damaging	Het
Gpr75	A	T	11: 30,891,730	T212S	probably benign	Het
Itgb4	A	G	11: 116,007,969	T1711A	probably damaging	Het
Ly75	T	C	2: 60,354,452	S453G	probably benign	Het
Maneal	A	G	4: 124,860,483		probably benign	Het
Marco	A	T	1: 120,494,779	I58N	possibly damaging	Het
Mtcl1	A	G	17: 66,379,970	I647T	probably damaging	Het
Mtfr1l	A	T	4: 134,530,743	V56D	probably damaging	Het
Npy1r	G	A	8: 66,704,302	V125I	probably damaging	Het
Olfr348	C	T	2: 36,786,545	Q7*	probably null	Het
Olfr659	T	C	7: 104,671,681		probably benign	Het
Olfr843	A	G	9: 19,248,664	L245P	probably damaging	Het
Osmr	A	T	15: 6,837,729	L362*	probably null	Het
Pdlim2	T	C	14: 70,174,457	D42G	probably damaging	Het
Plcb4	T	A	2: 136,000,180	I89N	possibly damaging	Het
Prrc2b	T	A	2: 32,214,035	M1175K	probably benign	Het
Pzp	T	A	6: 128,486,170	N1423I	probably benign	Het
Retnla	G	A	16: 48,844,198	C105Y	probably damaging	Het
Samd8	T	A	14: 21,775,476	S167T	possibly damaging	Het
Scg2	A	G	1: 79,436,493	M171T	possibly damaging	Het
Slc30a5	A	G	13: 100,803,433	V658A	probably damaging	Het
Slc41a2	T	C	10: 83,316,591	R7G	possibly damaging	Het
Slc44a2	A	G	9: 21,347,042	T500A	probably damaging	Het
Slc44a4	G	T	17: 34,923,810	G396V	possibly damaging	Het
Smarca5	A	G	8: 80,719,570		probably benign	Het
St8sia6	T	A	2: 13,793,345	R34W	probably damaging	Het
Stk-ps2	T	A	1: 46,030,177		noncoding transcript	Het
Stn1	T	C	19: 47,513,890	Y235C	probably damaging	Het
Tgfbr1	G	A	4: 47,393,490		probably null	Het
Thsd7b	G	T	1: 129,595,771	V181L	probably damaging	Het
Tmpo	G	A	10: 91,163,242	R228C	probably benign	Het
Trpm4	T	G	7: 45,326,998	R51S	probably damaging	Het
Vmn1r91	A	T	7: 20,101,746	T197S	probably damaging	Het
Xrn1	A	G	9: 95,977,827	D424G	probably benign	Het
Yap1	A	G	9: 7,962,281		probably null	Het
Zer1	T	C	2: 30,113,393	D4G	probably damaging	Het
Zfp462	A	T	4: 55,010,292	I753F	possibly damaging	Het

Other mutations in Tbx15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Tbx15	APN	3	99316246	missense	probably damaging	1.00
IGL01458:Tbx15	APN	3	99316228	missense	probably damaging	0.98
IGL01633:Tbx15	APN	3	99313042	missense	probably damaging	0.97
IGL02415:Tbx15	APN	3	99352510	missense	probably benign	0.01
IGL03143:Tbx15	APN	3	99352198	missense	possibly damaging	0.67
IGL03201:Tbx15	APN	3	99351980	missense	probably benign	0.00
shin_guard	UTSW	3	99352192	missense	possibly damaging	0.90
Shortcut	UTSW	3	99313073	nonsense	probably null
R0012:Tbx15	UTSW	3	99352096	missense	probably benign
R0109:Tbx15	UTSW	3	99351866	missense	possibly damaging	0.92
R0277:Tbx15	UTSW	3	99352391	missense	probably damaging	1.00
R0462:Tbx15	UTSW	3	99316318	missense	probably damaging	1.00
R1134:Tbx15	UTSW	3	99316323	missense	probably damaging	0.98
R1347:Tbx15	UTSW	3	99352111	missense	possibly damaging	0.92
R1347:Tbx15	UTSW	3	99352111	missense	possibly damaging	0.92
R1506:Tbx15	UTSW	3	99351912	missense	possibly damaging	0.80
R1681:Tbx15	UTSW	3	99351824	splice site	probably null
R1762:Tbx15	UTSW	3	99351944	nonsense	probably null
R1789:Tbx15	UTSW	3	99352246	nonsense	probably null
R2167:Tbx15	UTSW	3	99326455	splice site	probably benign
R2254:Tbx15	UTSW	3	99351874	missense	possibly damaging	0.52
R2357:Tbx15	UTSW	3	99316356	splice site	probably null
R2441:Tbx15	UTSW	3	99352511	missense	probably damaging	0.99
R3010:Tbx15	UTSW	3	99253893	intron	probably benign
R3118:Tbx15	UTSW	3	99352154	missense	probably damaging	0.96
R4081:Tbx15	UTSW	3	99313054	missense	possibly damaging	0.92
R4610:Tbx15	UTSW	3	99352367	missense	probably damaging	1.00
R4898:Tbx15	UTSW	3	99352267	missense	possibly damaging	0.95
R4950:Tbx15	UTSW	3	99326384	missense	possibly damaging	0.82
R4982:Tbx15	UTSW	3	99254074	missense	probably benign	0.06
R4999:Tbx15	UTSW	3	99316333	missense	probably damaging	1.00
R5236:Tbx15	UTSW	3	99352046	missense	possibly damaging	0.92
R5339:Tbx15	UTSW	3	99316284	missense	possibly damaging	0.61
R5364:Tbx15	UTSW	3	99352192	missense	possibly damaging	0.90
R5493:Tbx15	UTSW	3	99352564	missense	probably benign
R5690:Tbx15	UTSW	3	99308850	missense	probably damaging	0.99
R5756:Tbx15	UTSW	3	99313086	missense	probably damaging	1.00
R6032:Tbx15	UTSW	3	99352517	missense	probably benign	0.28
R6032:Tbx15	UTSW	3	99352517	missense	probably benign	0.28
R6156:Tbx15	UTSW	3	99313115	critical splice donor site	probably null
R6173:Tbx15	UTSW	3	99253887	nonsense	probably null
R6596:Tbx15	UTSW	3	99352192	missense	probably benign
R6680:Tbx15	UTSW	3	99313073	nonsense	probably null
R6931:Tbx15	UTSW	3	99352151	missense	probably damaging	1.00
R8129:Tbx15	UTSW	3	99253938	missense	probably damaging	1.00
R8155:Tbx15	UTSW	3	99352570	missense	possibly damaging	0.69
R8230:Tbx15	UTSW	3	99351989	missense	probably damaging	1.00
R8729:Tbx15	UTSW	3	99313060	missense	possibly damaging	0.90
R8929:Tbx15	UTSW	3	99314903	missense	probably damaging	1.00
R9038:Tbx15	UTSW	3	99314769	missense	probably benign	0.14
R9688:Tbx15	UTSW	3	99326392	missense	possibly damaging	0.89
R9746:Tbx15	UTSW	3	99352331	missense	probably damaging	1.00
X0023:Tbx15	UTSW	3	99314835	missense	probably damaging	1.00

Posted On

2015-04-16